Variant report

Variant	rs1984224
Chromosome Location	chr6:106537354-106537355
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106533395..106535560-chr6:106536184..106537993,2	K562	blood:

Variant related genes	Relation type
ENSG00000057657	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12175062	0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1340064	0.82[ASN][1000 genomes]
rs1934593	0.95[JPT][hapmap]
rs4946724	0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs535780	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs547057	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6924535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1984224	AIM1	cis	lymphoblastoid	seeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106533400-106537400	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:106533400-106537800	Active TSS	Esophagus	oesophagus
3	chr6:106533600-106539400	Active TSS	Duodenum Mucosa	Duodenum
4	chr6:106533600-106541200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:106533800-106537800	Active TSS	Lung	lung
6	chr6:106534200-106539200	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr6:106534400-106538400	Active TSS	Right Atrium	heart
8	chr6:106534600-106537400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr6:106534800-106538400	Active TSS	Colonic Mucosa	Colon
10	chr6:106535000-106538400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:106535200-106538600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:106535400-106537400	Flanking Active TSS	Osteobl	bone
13	chr6:106535600-106539200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:106535800-106538600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:106536000-106537400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:106536000-106537800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:106536000-106538200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:106536000-106538400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:106536000-106538600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:106536000-106538600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
21	chr6:106536000-106539200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:106536200-106537400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr6:106536200-106537400	Active TSS	Psoas Muscle	Psoas
24	chr6:106536200-106537800	Weak transcription	Stomach Mucosa	stomach
25	chr6:106536200-106538400	Active TSS	Hela-S3	cervix
26	chr6:106536200-106538600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:106536200-106545800	Weak transcription	Spleen	Spleen
28	chr6:106536400-106537400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr6:106536400-106537400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:106536400-106537400	Enhancers	Dnd41	blood
31	chr6:106536400-106537400	Enhancers	HSMM	muscle
32	chr6:106536400-106537600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:106536400-106537600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:106536400-106538200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:106536400-106538400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr6:106536400-106538600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:106536400-106538600	Active TSS	NHLF	lung
38	chr6:106536400-106539200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:106536400-106545200	Weak transcription	HSMMtube	muscle
40	chr6:106536400-106545600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:106536600-106537600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:106536600-106537800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr6:106536600-106537800	Active TSS	NHDF-Ad	bronchial
44	chr6:106536600-106538000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:106536600-106538000	Active TSS	GM12878-XiMat	blood
46	chr6:106536600-106538600	Active TSS	Brain Hippocampus Middle	brain
47	chr6:106536600-106539000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:106536800-106538000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:106536800-106538600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:106537000-106537400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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